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Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.

Identifieur interne : 002A70 ( PubMed/Curation ); précédent : 002A69; suivant : 002A71

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.

Auteurs : Anja Hiller [Allemagne] ; Johann M. Hagenah ; Ana Djarmati ; Katja Hedrich ; Kathrin Reetz ; Christiane Schneider-Gold ; Wolfgang Kress ; Alexander Münchau ; Christine Klein

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17013904

English descriptors

KwdEn :
- Adult, Aged, Carrier State, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Parkinsonian Disorders (genetics), Phenotype, Protein Kinases (genetics).
MESH :
- chemical , genetics : Protein Kinases.
- genetics : Parkinsonian Disorders.
- Adult, Aged, Carrier State, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Phenotype.

Abstract

The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.

DOI: 10.1002/mds.21059
PubMed: 17013904

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Le document en format XML

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<author><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea>
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<author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
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<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
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<author><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name>
</author>
<author><name sortKey="Schneider Gold, Christiane" sort="Schneider Gold, Christiane" uniqKey="Schneider Gold C" first="Christiane" last="Schneider-Gold">Christiane Schneider-Gold</name>
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<author><name sortKey="Kress, Wolfgang" sort="Kress, Wolfgang" uniqKey="Kress W" first="Wolfgang" last="Kress">Wolfgang Kress</name>
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<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<author><name sortKey="Schneider Gold, Christiane" sort="Schneider Gold, Christiane" uniqKey="Schneider Gold C" first="Christiane" last="Schneider-Gold">Christiane Schneider-Gold</name>
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<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinsonian Disorders (genetics)</term>
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<front><div type="abstract" xml:lang="en">The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.</div>
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<Abstract><AbstractText>The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.</AbstractText>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.

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English descriptors

Abstract

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